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EJHG_OFC.indd 14/1/2006 10:58:05 AM

May 31 - June 3, 2014

Milan, Italy

AbstractsEuropean Human Genetics

Conference 2014

Volume 22 Supplement 1 May 2014 www.nature.com/ejhg

ABSTRACTS

ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG

1

European Human Genetics Conference

in conjunction with the European Meeting on Psychosocial aspects of Genetics

May 31 - June 3, 2014

Milan, Italy

Abstracts

E M P A G

EUROPEAN MEETING ON

PSYCHOSOCIAL ASPECTS OF GENETICS

ABSTRACTS

ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG

2

European Society of Human Genetics

European Society

of Human Genetics

Karin Knob

Andrea Robinson

c/o Vienna Medical Academy

Alser Strasse 4

1090 Vienna

Austria

T: 0043 1 405 13 83 20 or 35

F: 0043 1 407 82 74

Executive Board 2013-2014

President

Han Brunner, NL

Vice-President

Stanislas Lyonnet, FR

President-Elect

Secretary-General

Deputy-Secretary-General

Karin Writzl, SI

Treasurer

Andrew Read, UK

Jerome del Picchia, AT

Chair

Brunhilde Wirth, DE

Members

Antonio Amoroso, Local Host, Turin, IT

Alexis Brice, Paris, FR

Paul de Bakker, Utrecht, NL

Martina Cornel, Amsterdam, NL

Francesca Forzano, Genova, IT

Maurizio Genuardi, Florence, IT

Erik Iwarsson, Stockholm, SE

Xavier Jeunemaitre, Paris, FR

Lidia Larizza, Milan, IT

Giovanni Neri, Rome, IT

William Newman, Manchester, UK

Francesc Palau, Valencia, ES

Anita Rauch, Zurich, CH

Samuli Ripatti, Helsinki, FI

Joris Vermeesch, Leuven, BE

Karin Writzl, Ljubljana, SI

Board MembersLiaison Members

Yasemin Alanay, TR

Pascal Borry, BE

Nina Canki-Klain, CR

Ana Carrió, ES

Domenico Coviello, IT

Koen Devriendt, BE

Munis Dundar, TR

Peter Kroisel, AT

Dorit Lev, IL

Will Newman, UK

Markus Perola, FI

Borut Peterlin, SI

Hans Scheffer, NL

Heather Skirton, UKMartina Cornel, NLThomas Liehr, DEHeather Skirton, UKBrunhilde Wirth, DE www.eshg.org

Future European Human Genetics Conferences

European Human Genetics Conference 2015

June 6 - 9, 2015

European Human Genetics Conference 2016

Barcelona, Spain

May 21 - 24, 2016

Committees - Board - Organisation

ABSTRACTS

ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG

3

Spoken Presentations

4

Plenary Lectures4

Concurrent Symposia7

Educational Sessions15

Concurrent Sessions19

EMPAG Educational Sessions349

EMPAG Plenary Lectures

349

Posters

51
51
112
127
140
148
197
205
237
304
320
338

EP01-52

Published Abstracts J01.01 - J19.31 370

Indices

517

Keyword Index517

Author Inde

x 534
grey blue

TABLE OF CONTENTS

ABSTRACTS PLENARY LECTURES

ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG

4

Back to index

PLENARY LECTURES

PL1.1 RASopathies. The other face of RAS signalling dysregulation

M. Tartaglia

Istituto Superiore di Sanità, Rome, Italy.

RAS proteins are small monomeric GTPases that function as molecular swit ches controlling a major intracellular signaling network that, depending on the cellular context, guides diverse biological functions, including proliferation, cell fate determination, survival, migration, differentiation, and senescence. RAS signaling is switched on upon stimulation by numerous cytokines, hormones, and growth factors, and mediates the appropriate cell response to external sti muli through the regulation of transcription, cytoskeletal rearrangement, and mediates early and late developmental processes, including determination of morphology, organogenesis, synaptic plasticity, and growth. activation has been known for decades to represent a major event in oncoge nesis. Activating somatic RAS gene mutations occur in approximately 30% of human cancers, and upregulation of this signaling pathway can also result from enhanced function of upstream signal transducers or RAS effectors, and inef Unexpectedly, discoveries derived from a massive disease gene hunting effort have recently established a novel scenario in which the upregulation of this signaling cascade underlies a group of clinically related developmental disor ders, the RASopathies, characterized by facial dysmorphism, cardiac defects, loskeletal anomalies, and increased risk for certain malignancies. These dis orders are caused by mutations in genes encoding RAS proteins, regulators of RAS function, modulators of RAS interaction with effectors or downstream signal transducers. Based on the relatively high prevalence of some of these lation of this signaling pathway represents one of the most common events af fecting developmental processes. These discoveries have also provided us with unpredicted molecular mechanisms converging toward the dysregulation of this signaling network. PL1.2

Evolution of the HD gene

E. Cattaneo

Department of Bioscience, University of Milan, Milan, Italy. The Hdh gene arose with no CAGs in Dictyostelium discoideumȋDdȌǡͺͲͲ rostome branch. Two CAGs are found in HdhȋStrongylocentrotus purpuratus, Sp normal subjects revealed an increase in grey matter with increasing length of in CAG length in the Hdh gene observed during evolution may be implicated in the evolutionary changes that have occurred in the developing and adult ner vous system throughout vertebrate phylogeny, with a possible role for the CAG in newly emerging cognitive functions in the mammalian brain. We have now collected the Hdh gene from new species both in the protostome and deutero- stome branch. In addition to further analyze the CAG tract during mammalian non-anthropomorphic and anthropomorphic primates htt phylogeny supports further that the CAG tract expands during deuterosto me evolution and seems to correlate with the appearance and/or evolution of progressively more complex nervous systems. PL1.3 Genetic engineering of hematopoietic stem cells for the treatment of inherited diseases

L. Naldini

Milan, Italy.

PL2.1 Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

I. Aksentijevich

1 , Q. Zhou 1 , A. K. Ombrello 1 , D. Yang 2 , A. V. Zavialov 3 , R. Sood 1 , M. Boehm 2 , D.

L. Kastner

1 1

NHGRI/NIH, Bethesda, MD, United States,

2

NHLBI/NIH, Bethesda, MD, United States,

3

University of Turku, Turku, Finland.

We initially observed 3 unrelated patients with fevers, livedo reticularis, vas culopathy, and early-onset recurrent ischemic strokes. We performed exome sive inheritance. Candidate gene screening was done in additional 6 patients. haplotypes. Computer modeling based on the crystal structure of the human activity. ADA2 is expressed predominantly in myeloid cells and is a secreted protein. Animal models suggest that ADA2 is the prototype for a family of grow- homolog caused intracranial hemorrhages and neutropenia, phenotypes that biopsies from patients demonstrated vasculopathic changes characterized by stroke to systemic vasculopathy and/or vasculitis. PL2.2 Disrupted auto-regulation of SNRPB causes cerebro-costo-mandibular syndrome

D. C. Lynch

1 , T. Revil 2 , J. Schwartzentruber 3 , E. J. Bhoj 4 , A. M. Innes 1 , R. E. Lamont 1 , E. G.

Lemire

5 , B. N. Chodirker 6 , J. P. Taylor 7 , E. H. Zackai 4 , D. R. McLeod 1 , E. P. Kirk 8 , J. Hoover-Fong 9

L. Fleming

10 , R. Savarirayan 11 , .. Care4Rare Canada 12 , J. Majewski 13 , A. Jerome-Majewska 14 , J.

S. Parboosingh

1 , F. P. Bernier 1 1 Department of Medical Genetics, University of Calgary, Calgary, AB, Canada, 2

Department

of Human Genetics, McGill University, Montréal, QC, Canada, 3

McGill University and Génome

Québec Innovation Centre, Montréal, QC, Canada, 4

Department of Genetics, The Children's

Hospital of Philadelphia, Philadelphia, PA, United States, 5

Division of Medical Genetics,

Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada, 6

Department

of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada, 7

Genetic

Health Service, Auckland, New Zealand,

8

Sydney Children's Hospital, Randwick, Australia,

9 Greenberg Center for Skeletal Dysplasias,McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States, 10

McKusick-Nathans Institute of

Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States, 11

12Victorian

Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia, 12 Children's Hospital of Eastern Ontario, Ottawa, ON, Canada, 13

Department of Human

Genetics, McGill University, Montreal, QC, Canada, 14

Department of Pediatrics, McGill

University, Montréal, QC, Canada.

The discovery of highly conserved non-coding elements has unleashed a race non-coding elements has previously been associated with regulating levels of core spliceosomal components, which affects the alternative splicing of down stream genes. These regulatory exons contain a premature termination codon, syndrome characterized by posterior rib gaps and micrognathia. The identi the functional importance of this class of conserved elements in the regulation of human development. We suggest that this exon, which is highly conserved across placental mammals but not other vertebrates, accords a subtle regulato development. PL2.3 The First 100 patients diagnosed by whole-exome sequencing through

FORGE Canada: Insights for Clinical Translation

S. L. Sawyer

1 , C. L. Beaulieu 1 , T. Hartley 1 , D. Bulman 1 , J. Majewski 2 , FORGE Canada

Consortium, K. M. Boycott

1 1 Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada,

ABSTRACTS PLENARY LECTURES

ESHG 2014 | MILAN, ITALY | WWW.ESHG.ORG

5

Back to index

2 Department of Human Genetics, McGill University, Montréal, QC, Canada. An accurate genetic diagnosis is fundamental for pediatric patients with rare genetic disorders to improve disease management, access to resources, and shows that 36% of the solved disorders were secondary to mutations in known died. All patients had undergone standard of care genetic testing in Canada and sive, four were X-linked mutations and one family had two disorders. Although terogeneous disorders or sibling recurrence are the most likely to be diagnosed PL2.4

Transcriptomes of individual cells

C. Borel

, P. G. Ferreira, M. Garieri, F. A. Santoni, O. Delaneau, E. Falconnet, P. Ribaux, P. Makrythanasis, M. Guipponi, E. T. Dermitzakis, S. E. Antonarakis; University of Geneva Medical School, Geneva, Switzerland. cell transcriptional variation. Starting from a homogeneous cell population of the bulk sample containing millions of cells. We noted a wide spectrum of tran scriptional heterogeneity. Correlation analysis between single-cells showed contained alternative transcript termination sites. To further assess the differential allelic expression at the single-cell level, WGS tively transcribed for most of the detected genes. Interestingly, we observed a skewed monoallelic distribution in single-cells in a given snapshot of time. In deed, for most of the genes, we detected one transcribed allele at the time in an individual. We will also provide a comprehensive survey of imprinted genes, X inactivation and escape. PL2.5 Chromosome X-wide association analysis discovers new loci for complex traits including a height locus not dosage compensated between men and women

T. Tukiainen

1,2,3 , M. Pirinen 3 , A. Sarin 3,4 , C. Ladenvall 5 , J. Kettunen 3,4 6 , M. Lokki 7 , M. Perola 3,4,8 , J. Sinisalo 9 , E. Vlachopoulou 7 , J. G. Eriksson

4,10,9

, L. Groop 11,3 , A. Jula 12 , M. 13,14 , O. T. Raitakari 15 , V. Salomaa 4 , S. Ripatti

3,16,17

1 Massachusetts General Hospital, Boston, MA, United States, 2

Broad Institute of Harvard

and MIT, Cambridge, MA, United States, 3

Institute for Molecular Medicine Finland (FIMM),

University of Helsinki, Helsinki, Finland,

4 National Institute for Health and Welfare, Helsinki,

Finland,

5 Lund University and Lund University Diabetes Centre, CRC at Skåne University 6 University of Tampere School of Medicine, Tampere, Finland, 7 Haartman Institute, University of Helsinki, Helsinki, Finland, 8

Estonian Genome Center,

University of Tartu, Taru, Estonia,

9 Helsinki University Central Hospital, Helsinki, Finland, 10 Department of General Practice and Primary Healthcare, University of Helsinki, Finland, 11 Lund University and Lund University Diabetes Centre, CRC at Skåne University Hospital, 12 National Institute for Health and Welfare, Turku, Finland, 13

School of

Public Health, Imperial College London, London, United Kingdom, 14

Institute of Health

Sciences and Biocenter Oulu, University of Oulu, Finland, 15

University of Turku and Turku

University Hospital, Turku, Finland,

16 Wellcome Trust Sanger Institute, Hinxton, Cambridge,

United Kingdom,

17 Hjelt Institute, University of Helsinki, Helsinki, Finland. studies, thus representing one potential source for the “missing heritability" further highlighting that chrX warrants attention. and Sweden. ChrX-wide association analysis pinpointed three new loci: two for from XCI, showed sex-heterogeneity in a manner consistent with no dosage compensation between men and women, observation further supported by an XCI-escaping gene and phenotypic variation in a population sample, and we and women. average 2.6% of complex trait heritability, suggests there are tens of associated chrX loci to be discovered, with the intriguing possibility that some of the loci can also contribute to sexual dimorphisms. PL2.6 disability

C. Gilissen

1 , J. Y. Hehir-Kwa 1 , D. T. Thung 1 , M. Van de Vorst 1 , B. W. M. van Bon 1 , M. H.

Willemsen

1 , M. Kwint 1 , I. Janssen 1 , A. Hoischen 1 , R. Leach 2 , R. Kleinquotesdbs_dbs50.pdfusesText_50

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